1. Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes. Issue 3 (18th February 2019) Authors: Mary, Laura; Chennen, Kirsley; Stoetzel, Corinne; Antin, Manuela; Leuvrey, Anne; Nourisson, Elsa; Alanio‐Detton, Elisabeth; Antal, Maria C.; Attié‐Bitach, Tania; Bouvagnet, Patrice; Bouvier, Raymonde; Buenerd, Annie; Clémenson, Alix; Devisme, Louise; Gasser, Bernard; Gilbert‐Dussardier, Brigitte;... Journal: Clinical genetics Issue: Volume 95:Issue 3(2019) Page Start: 384 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Chronic Intervillositis of Unknown Etiology: Development of a Grading and Scoring System That Is Strongly Associated With Poor Perinatal Outcomes. (October 2020) Authors: Sauvestre, Fanny; Mattuizzi, Aurélien; Sentilhes, Loïc; Poingt, Marion; Blanco, Patrick; Houssin, Clémence; Carles, Dominique; Pelluard, Fanny; Andre, Gwenaëlle; Lazaro, Estibaliz Journal: American journal of surgical pathology Issue: Volume 44:Number 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage. (20th February 2022) Authors: Coste, Thibault; Vincent‐Delorme, Catherine; Stichelbout, Morgane; Devisme, Louise; Gelot, Antoinette; Deryabin, Igor; Pelluard, Fanny; Aloui, Chaker; Leutenegger, Anne‐Louise; Jouannic, Jean‐Marie; Héron, Delphine; Gould, Douglas B; Tournier‐Lasserve, Elisabeth Journal: Prenatal diagnosis Issue: Volume 42:Number 5(2022) Page Start: 601 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Exome sequencing identifies the first genetic determinants of sirenomelia in humans. Issue 5 (1st March 2020) Authors: Lecoquierre, François; Brehin, Anne‐Claire; Coutant, Sophie; Coursimault, Juliette; Bazin, Anne; Finck, Wilfrid; Benoist, Guillaume; Begorre, Marianne; Beneteau, Claire; Cailliez, Daniel; Chenal, Pierre; De Jong, Mirjam; Degré, Sophie; Devisme, Louise; Francannet, Christine; Gérard, Bénédicte; Je... Journal: Human mutation Issue: Volume 41:Issue 5(2020) Page Start: 926 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data. (22nd March 2022) Authors: Lamouroux, Audrey; Dauge, Coralie; Wells, Constance; Mousty, Eve; Pinson, Lucile; Cavé, Hélène; Capri, Yline; Faure, Jean‐Michel; Grosjean, Frédéric; Sauvestre, Fanny; Attié‐Bitach, Tania; Pelluard, Fanny; Geneviève, David Journal: Prenatal diagnosis Issue: Volume 42:Number 5(2022) Page Start: 574 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Fetal phenotype associated with the 22q11 deletion. Issue 11 (8th August 2014) Authors: Noël, Anne‐Claire; Pelluard, Fanny; Delezoide, Anne‐Lise; Devisme, Louise; Loeuillet, Laurence; Leroy, Brigitte; Martin, Alain; Bouvier, Raymonde; Laquerriere, Annie; Jeanne‐Pasquier, Corinne; Bessieres‐Grattagliano, Betty; Mechler, Charlotte; Alanio, Elisabeth; Leroy, Camille; Gaillard, Dominique Journal: American journal of medical genetics Issue: Volume 164:Issue 11(2014.) Page Start: 2724 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases1. (9th December 2016) Authors: Tessier, Aude; Sarreau, Mélie; Pelluard, Fanny; André, Gwenaelle; Blesson, Sophie; Bucourt, Martine; Dechelotte, Pierre; Faivre, Laurence; Frébourg, Thierry; Goldenberg, Alice; Goua, Valérie; Jeanne‐Pasquier, Corinne; Guimiot, Fabien; Laquerriere, Annie; Laurent, Nicole; Lefebvre, Mathilde; Loget... Journal: Prenatal diagnosis Issue: Volume 36:Number 13(2016) Page Start: 1270 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Pathological Findings in Feto-Maternal Hemorrhage. (March 2014) Authors: Carles, Dominique; André, Gwenaëlle; Pelluard, Fanny; Martin, Olivia; Sauvestre, Fanny Journal: Pediatric and developmental pathology Issue: Volume 17:Number 2(2014) Page Start: 102 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. Issue 6 (5th April 2021) Authors: Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jérome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Lauren... Journal: Journal of medical genetics Issue: Volume 59:Issue 6(2022) Page Start: 559 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Severe X‐linked chondrodysplasia punctata in nine new female fetuses. (30th March 2015) Authors: Lefebvre, Mathilde; Dufernez, Fabienne; Bruel, Ange‐Line; Gonzales, Marie; Aral, Bernard; Saint‐Onge, Judith; Gigot, Nadège; Desir, Julie; Daelemans, Caroline; Jossic, Frédérique; Schmitt, Sébastien; Mangione, Raphaele; Pelluard, Fanny; Vincent‐Delorme, Catherine; Labaune, Jean‐Marc; Bigi, Nicole... Journal: Prenatal diagnosis Issue: Volume 35:Number 7(2015:Jul.) Page Start: 675 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗